- Reference sequences were NC_000018.9 and NM_005359.5. cDNA number 1 is the "A" of the start codon.
- Frameshift is documented by the original amino acid followed by the codon number and "fs" (ex. Leu159 fs).
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- Disease abbreviations are Juvenile Polyposis Syndrome (JP), Hereditary Hemorrhagic Telangiectasia (HHT), and the combined syndrome (JP/HHT).